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rs12086634

From SNPedia

Orientationplus
Stabilizedplus
Make rs12086634(G;G)
Make rs12086634(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position209706914
GeneHSD11B1
is asnp
is mentioned by
dbSNPrs12086634
ebirs12086634
HLIrs12086634
Exacrs12086634
Varsomers12086634
Maprs12086634
PheGenIrs12086634
hapmaprs12086634
1000 genomesrs12086634
hgdprs12086634
ensemblrs12086634
gopubmedrs12086634
geneviewrs12086634
scholarrs12086634
googlers12086634
pharmgkbrs12086634
gwascentralrs12086634
openSNPrs12086634
23andMers12086634
23andMe allrs12086634
SNP Nexus

SNPshotrs12086634
SNPdbers12086634
MSV3drs12086634
GWAS Ctlgrs12086634
GMAF0.1961
Max Magnitude

[PMID 21622477] A combination of polymorphisms in HSD11B1 associates with in vivo 11{beta}-HSD1 activity and metabolic syndrome in women with and without polycystic ovary syndrome

[PMID 21915484OA-icon.png] Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency [PMID 16236446] Polymorphisms in the gene encoding 11B-hydroxysteroid dehydrogenase type 1 (HSD11B1) and lifetime cognitive change.


[PMID 16551740] Genetic variation in 11beta-hydroxysteroid dehydrogenase type 1 predicts adrenal hyperandrogenism among lean women with polycystic ovary syndrome.


[PMID 16817821] Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome.


[PMID 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

[PMID 23869418] Association Between a 11β-Hydroxysteroid Dehydrogenase Type 1 Gene Polymorphism and Metabolic Syndrome in a South Indian Population

[PMID 23778418OA-icon.png] Modulatory effect of BclI GR gene polymorphisms on the obesity phenotype in Brazilian patients with Cushing's disease

ClinVar
Risk rs12086634(G;G)
Alt rs12086634(G;G)
Reference rs12086634(T;T)
Significance Unknown
Disease Cortisone reductase deficiency 2
Variation info
Gene HSD11B1
CLNDBN Cortisone reductase deficiency 2
Reversed 0
HGVS NC_000001.11:g.209706914T>G
CLNSRC ClinVar
CLNACC RCV000009466.1,